尿调蛋白基因和天津地区汉族糖尿病肾病的相关性  

Association of uromodulin gene polymorphism with diabetic kidney disease in Han population in Tianjin of China

作　　者：郭俊[1] 陈莉明[1] 常宝成[1] 郑妙艳[1] 温娟娟[1] 

机构地区：[1]天津医科大学代谢病医院中西医结合科卫生部激素与发育重点实验室,300070

出　　处：《中华肾脏病杂志》2016年第5期339-344,共6页Chinese Journal of Nephrology

摘　　要：目的探讨尿调蛋白（uromodulin，UMOD）基因多态性与天津地区汉族人群糖尿病肾病fdiabetickidneydisease）的关系。方法选取健康对照者（NC）90例、2型糖尿病患者（T2DM）210例和DKD患者280例（GFR90ml／min组105例，60ml／mim≤GFR〈90ml／min组84例，GFR〈60ml/min组9l例），利用聚合酶链反应-限制性片段长度多态性分析法（PCR—RFLP）进行UMOD基因rs13333226位点多态性检测。结果NC组、T2DM组和DKD组患者的AA、AG、GG3种基因型频率分别为27．8％、58．9％、13_3％，41．0％、48．6％、10．5％和54-3％、36．1％、9．6％；G等位基因频率分别为42．8％、34．8％和27．7％。NC组与DKD组间、T2DM组与DKD组间在基因型分布上的差异有统计学意义（P〈0．05）。Logistic回归分析显示，UMOD基因的G等位基因是DKD的独立保护因素（B=-0．248，Wald=8．012，P=0．021，OR=0．780，95％CI 0．612～0．968）。结论UMOD基因rs13333226G等位基因可能是天津地区汉族人群DKD的独立保护因素。Objective To investigate the association of single nucleotide polymorphism （SNP） rs13333226 in uromodulin （UMOD） gene with diabetic kidney diseases （DKD） in Han population in Tianjin, China. Methods A total of 210 type 2 diabetes （T2DM）, 90 normal controls （NC） and 280 DKD patients were recruited. According to the level of estimated glomerular filtration rate （eGFR）, the DKD subjects were further subdivided into three groups： GFR≥90 ml/min group （n=105）, 60 ml/mim≤GFR 〈 90 ml/min group （n=84） and GFR 〈 60 ml/min group （n=91）. Polymerase chain reaction- restriction fragment length polymorphism （PCR-RFLP） was used for UMOD rs13333226C genotyping. Results The frequencies of AA, GA, GG genotype were 27.8%, 58.9%, 13.3% in NC group and 41.0%, 48.6%, 10.5% in T2DM group and 54.3%, 36.1%, 9.6% in DKD group. The frequency of G allele was 42.8% in NC group, 34.8% in T2DM group and 27.7% in DKD group. The genotype distribution of UMOD was statistically significant between NC group and DKD group, and between T2DM group and DKD group （P 〈 0.05）. G allele of UMOD was an independent protective gene polymorphism of DKD in Logistic regression （B=-0.248, Wald=8.012, P=0.021, OR=0.780, 95% CI 0.612-0.968）. Conclusion The G allele of UMOD gene may be an independent protective factor of DKD in Han population in Tianjin, China.

关 键 词：糖尿病 2型 多态性 单核苷酸 糖尿病肾病 尿调蛋白 

分 类 号：R587.2[医药卫生—内分泌]